Canonical Allele Identifier: CA1185271840
Gene: COL11A1 HGNC NCBI

Linked Data

dbSNP Id: rs1662723942

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102978569_102978572del , CM000663.2:g.102978569_102978572del GRCh38
NC_000001.10:g.103444125_103444128del , CM000663.1:g.103444125_103444128del GRCh37
NC_000001.9:g.103216713_103216716del NCBI36
NG_008033.1:g.134927_134930del
NG_008033.2:g.134927_134930del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.2754+138_2754+141del MANE Select ENSP00000359114.3:n.2754+138_2754+141del
ENST00000353414.8:c.2637+138_2637+141del ENSP00000302551.6:n.2637+138_2637+141del
ENST00000358392.6:c.2790+138_2790+141del ENSP00000351163.2:n.2790+138_2790+141del
ENST00000370096.7:c.2754+138_2754+141del ENSP00000359114.3:n.2754+138_2754+141del
ENST00000512756.5:c.2406+138_2406+141del ENSP00000426533.1:n.2406+138_2406+141del
ENST00000635193.1:c.2088+138_2088+141del
NM_001190709.1:c.2637+138_2637+141del NP_001177638.1:n.2637+138_2637+141del
NM_001854.3:c.2754+138_2754+141del NP_001845.3:n.2754+138_2754+141del
NM_080629.2:c.2790+138_2790+141del NP_542196.2:n.2790+138_2790+141del
NM_080630.3:c.2406+138_2406+141del NP_542197.3:n.2406+138_2406+141del
XM_011540719.1:c.2754+138_2754+141del XP_011539021.1:n.2754+138_2754+141del
XM_011540720.1:c.987+138_987+141del XP_011539022.1:n.987+138_987+141del
XM_011540721.1:c.342+138_342+141del XP_011539023.1:n.342+138_342+141del
XR_946545.1:n.3168+138_3168+141del
NR_134980.1:n.3088+138_3088+141del
XM_017000334.1:c.2907+138_2907+141del XP_016855823.1:n.2907+138_2907+141del
XM_017000335.1:c.2901+138_2901+141del XP_016855824.1:n.2901+138_2901+141del
XM_017000336.1:c.2907+138_2907+141del XP_016855825.1:n.2907+138_2907+141del
XM_017000337.1:c.1305+138_1305+141del XP_016855826.1:n.1305+138_1305+141del
NM_001854.4:c.2754+138_2754+141del MANE Select NP_001845.3:n.2754+138_2754+141del
NM_080630.4:c.2406+138_2406+141del NP_542197.3:n.2406+138_2406+141del
NR_134980.2:n.3114+138_3114+141del
NM_001190709.2:c.2637+138_2637+141del NP_001177638.1:n.2637+138_2637+141del
NM_080629.3:c.2790+138_2790+141del NP_542196.2:n.2790+138_2790+141del